Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Inha'

695277

Institutional Source

Beutler Lab

Gene Symbol

Inha

Ensembl Gene

ENSMUSG00000032968

Gene Name

inhibin alpha

Synonyms

MMRRC Submission

068941-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75483721-75487010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75486133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 143 (T143A)

Ref Sequence

ENSEMBL: ENSMUSP00000040310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037330] [ENSMUST00000113565] [ENSMUST00000113567]

AlphaFold

Q04997

Predicted Effect

probably benign
Transcript: ENSMUST00000037330
AA Change: T143A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040310
Gene: ENSMUSG00000032968
AA Change: T143A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	189	199	N/A	INTRINSIC
TGFB	263	366	1.58e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113565

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211

Domain	Start	End	E-Value	Type
IGc2	24	91	1.23e-12	SMART
IGc2	140	216	2.33e-13	SMART
IGc2	258	326	1.48e-6	SMART
IG	347	427	9.49e-5	SMART
IG	435	511	1.04e-1	SMART
FN3	518	601	6.6e-2	SMART
PDB:2E6Q\|A	608	714	5e-57	PDB
Blast:IG_like	622	711	2e-50	BLAST
IG	723	804	3.79e-4	SMART
IG	814	893	2.58e-6	SMART
IGc2	911	977	1.12e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113567

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211

Domain	Start	End	E-Value	Type
IGc2	24	91	1.23e-12	SMART
IGc2	140	216	2.33e-13	SMART
IGc2	258	326	1.48e-6	SMART
IG	347	427	9.49e-5	SMART
IG	435	511	1.04e-1	SMART
FN3	518	601	6.6e-2	SMART
PDB:2E6Q\|A	608	714	8e-57	PDB
Blast:IG_like	622	711	3e-50	BLAST
IG	723	804	3.79e-4	SMART
IG	814	893	2.58e-6	SMART
IGc2	911	977	1.12e-6	SMART
IG	996	1075	1.27e-5	SMART
IGc2	1094	1160	4.07e-4	SMART
IGc2	1186	1252	9.49e-5	SMART
IG	1274	1353	7.41e-7	SMART
IG	1363	1444	1.15e-3	SMART
IG	1454	1533	8.33e-1	SMART
IGc2	1549	1615	8.72e-4	SMART
IG	1633	1712	1e-3	SMART
IG	1723	1802	3.82e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155084

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211

Domain	Start	End	E-Value	Type
SCOP:d1g1ca_	2	32	1e-3	SMART
IGc2	64	132	1.48e-6	SMART
IG	153	233	9.49e-5	SMART
IG	241	317	1.04e-1	SMART
FN3	324	407	6.6e-2	SMART
PDB:2E6Q\|A	414	520	4e-57	PDB
Blast:IG_like	428	517	2e-50	BLAST
IG	529	610	3.79e-4	SMART
IG	620	699	2.58e-6	SMART
IGc2	717	783	1.12e-6	SMART
IG	802	881	1.27e-5	SMART
IGc2	900	966	4.07e-4	SMART
IGc2	992	1058	9.49e-5	SMART
IG	1080	1159	7.41e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mice in which this gene has been ablated exhibit sex cord-stromal tumors and symptoms that mimic the human cancer cachexia syndrome. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mutant mice develop gonadal sex cord-stromal tumors with nearly 100% penetrance and develop cachexia-like symptoms. The wasting syndrome is not observed in gonadectomized mutant mice, which develop adrenal tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,691,811 (GRCm39)	E34G	probably damaging	Het
Aldh1a3	A	T	7: 66,058,867 (GRCm39)	L157*	probably null	Het
Asic2	T	A	11: 80,784,872 (GRCm39)	T356S	probably benign	Het
Ate1	T	C	7: 129,996,463 (GRCm39)	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,350,423 (GRCm39)	Q474L		Het
Calhm6	T	C	10: 34,002,363 (GRCm39)	E240G	probably damaging	Het
Carf	C	A	1: 60,189,842 (GRCm39)	T689K	possibly damaging	Het
Carmil2	A	G	8: 106,412,922 (GRCm39)	D6G	probably benign	Het
Ccnd2	A	C	6: 127,127,663 (GRCm39)	V25G	probably damaging	Het
Ccnk	T	A	12: 108,159,978 (GRCm39)	F153L	probably damaging	Het
Cdh23	C	T	10: 60,249,485 (GRCm39)	G808E	probably damaging	Het
Clec11a	C	T	7: 43,954,317 (GRCm39)	R212Q	probably damaging	Het
Cog4	T	C	8: 111,608,384 (GRCm39)	W749R	probably damaging	Het
Col6a3	T	A	1: 90,738,301 (GRCm39)	T1073S	probably benign	Het
Col6a4	T	A	9: 105,952,209 (GRCm39)	D563V	probably benign	Het
Coq5	A	G	5: 115,433,839 (GRCm39)		probably null	Het
Crebbp	A	C	16: 3,914,346 (GRCm39)	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,449,051 (GRCm39)	G2737W		Het
Ddrgk1	T	C	2: 130,500,227 (GRCm39)	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,373,796 (GRCm39)	Q589R	probably benign	Het
Dnah10	A	G	5: 124,907,475 (GRCm39)	D4336G	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,938 (GRCm39)	Q140L	possibly damaging	Het
Ergic3	A	G	2: 155,850,780 (GRCm39)	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,329,497 (GRCm39)	S421T	probably benign	Het
Fndc3a	T	A	14: 72,921,162 (GRCm39)	H4L	possibly damaging	Het
Gid8	T	A	2: 180,359,756 (GRCm39)	Y213*	probably null	Het
Hephl1	G	T	9: 15,000,375 (GRCm39)	H292Q	probably damaging	Het
Hexb	T	C	13: 97,314,414 (GRCm39)	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,746,788 (GRCm39)	R168H	probably benign	Het
Hus1	A	G	11: 8,956,056 (GRCm39)	I159T	probably damaging	Het
Itga8	A	G	2: 12,194,330 (GRCm39)	I690T	probably benign	Het
Itgae	G	T	11: 73,016,089 (GRCm39)	C766F	possibly damaging	Het
Kank4	T	C	4: 98,666,563 (GRCm39)	E628G	probably benign	Het
Kctd19	T	C	8: 106,120,571 (GRCm39)	H221R	probably benign	Het
Llgl1	A	G	11: 60,597,934 (GRCm39)	E351G	probably benign	Het
Lrba	A	G	3: 86,202,508 (GRCm39)	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,291,713 (GRCm39)	R3489*	probably null	Het
Lrriq1	T	C	10: 103,050,640 (GRCm39)	N704S	probably benign	Het
Mbtps1	T	C	8: 120,235,693 (GRCm39)	N995S	probably benign	Het
Mga	T	C	2: 119,757,013 (GRCm39)	C1077R	probably damaging	Het
Muc21	G	A	17: 35,932,131 (GRCm39)	P685L	unknown	Het
Ndufv1	A	T	19: 4,059,912 (GRCm39)	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,429,660 (GRCm39)	L226P	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Or12k8	A	C	2: 36,975,016 (GRCm39)	M248R	probably benign	Het
Or1d2	A	G	11: 74,255,791 (GRCm39)	T99A	probably benign	Het
Or2n1d	A	T	17: 38,646,224 (GRCm39)	M59L	probably damaging	Het
Or5b99	G	A	19: 12,976,428 (GRCm39)	C26Y	probably benign	Het
Or7g35	A	T	9: 19,496,379 (GRCm39)	D182V	probably benign	Het
Phc3	A	G	3: 30,968,691 (GRCm39)	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Ppp4c	A	T	7: 126,386,419 (GRCm39)	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,422,023 (GRCm39)	P308T	probably damaging	Het
Rhot1	A	G	11: 80,148,380 (GRCm39)	T607A	probably null	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,701,294 (GRCm39)	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,672,571 (GRCm39)	Y36H	probably damaging	Het
Sox17	T	C	1: 4,562,447 (GRCm39)	Y251C	probably damaging	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Taf4b	T	C	18: 14,946,296 (GRCm39)	V373A	probably benign	Het
Tecpr2	T	A	12: 110,881,184 (GRCm39)	V107E	probably damaging	Het
Them7	A	G	2: 105,209,124 (GRCm39)	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Ttn	C	T	2: 76,625,937 (GRCm39)	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,754,615 (GRCm39)	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,196,343 (GRCm39)	R309*	probably null	Het
Vmn2r10	A	T	5: 109,144,212 (GRCm39)	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,917,207 (GRCm39)	Q435R	probably null	Het
Vmn2r50	A	T	7: 9,781,571 (GRCm39)	H391Q	probably damaging	Het
Zbtb44	A	T	9: 30,965,309 (GRCm39)	I240F	probably benign	Het

Other mutations in Inha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Inha	APN	1	75,486,572 (GRCm39)	missense	probably damaging	1.00
IGL02698:Inha	APN	1	75,486,527 (GRCm39)	missense	probably damaging	1.00
IGL02728:Inha	APN	1	75,486,091 (GRCm39)	missense	probably damaging	0.99
R4555:Inha	UTSW	1	75,486,227 (GRCm39)	missense	possibly damaging	0.86
R7328:Inha	UTSW	1	75,486,760 (GRCm39)	missense	probably damaging	1.00
R9161:Inha	UTSW	1	75,484,144 (GRCm39)	missense	probably damaging	1.00
R9478:Inha	UTSW	1	75,486,562 (GRCm39)	missense	probably benign	0.45
R9616:Inha	UTSW	1	75,486,211 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAAATCAAGGCTACCCTCTCTTTC -3'
(R):5'- ACCAGGAAAGGAGTGGTCTC -3'

Sequencing Primer
(F):5'- AAGGCTACCCTCTCTTTCCTTTTTC -3'
(R):5'- AAGGAGTGGTCTCAGGCC -3'

Posted On

2022-01-20